[Epidemiology of malformations associated with cleft lip and palate: a retrospective study of 324 cases]

A de Bérail1, F Lauwers2, E Noirrit Esclassan3

  • 1Service de chirurgie maxillo-faciale et plastique de la face, CHU de Toulouse, place du Docteur-Baylac, TSA 40031, 31059 Toulouse, France; Service de chirurgie viscérale pédiatrique, CHU de Toulouse, 31059 Toulouse, France.

Insights

Cleft palate is more frequently linked to syndromes and other malformations than cleft lip. A systematic workup is crucial for diagnosing associated conditions in newborns with clefts.

Area of Science:

  • Pediatric surgery
  • Medical genetics
  • Epidemiology

Context:

  • Cleft lip and/or palate (CL/P) are common congenital anomalies.
  • CL/P can occur in isolation or as part of a syndrome with other malformations.
  • Understanding the epidemiology of associated malformations is vital for comprehensive patient care.

Purpose:

  • To investigate the epidemiology and distribution of malformations and syndromes associated with cleft lip and/or palate.
  • To determine if the type of cleft influences the occurrence of associated anomalies.
  • To identify patterns in syndromic and nonsyndromic malformations in relation to CL/P type.

Summary:

  • A retrospective study of 324 patients with CL/P (1994-2011) analyzed associated malformations diagnosed within the first year of life.
  • Cleft palate showed a higher association with other malformations (36.51%) and syndromic forms (34.4%) compared to cleft lip (29.9% and 3.47%, respectively).
  • Nonsyndromic malformations affected the urogenital/renal systems in cleft palate cases and the cardiovascular system in cleft lip cases. Pierre-Robin sequence was the most common syndrome.

Impact:

  • Findings highlight that malformation patterns are associated with cleft type, emphasizing the need for tailored diagnostic approaches.
  • Underscores the importance of systematic neonatal screening for malformations in all infants with clefts.
  • Facilitates early diagnosis and effective management strategies for associated conditions, improving long-term outcomes for children with CL/P.
Abstract

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